Varaico: Literature-Extracted Genetic Variants

Gene:ZCCHC8
Variant:p.L517P

ZCCHC8

82 papers

RefSeq Summary

This gene encodes a scaffold protein which serves as an assessory factor to the nuclear RNA exosome complex. The encoded protein forms a trimeric human nuclear exosome targeting (NEXT) complex, togeth...

Pfam Domains

zf-CCHCaa 227–244UCSCZinc knuckle
PSPaa 287–335UCSCPSP

Gene Aliases

HGNC Name

zinc finger CCHC-type containing 8

HGNC Alias Symbol

DKFZp434E2220

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_017612.5
p.L517P
c.1550T>C
Surrounding Variants
1 paper
NM_017612.5
p.E521Q
c.1561G>C
1 paper
NM_017612.5
p.R526Q
c.1577G>A
1 paper
NM_017612.5
p.N538delFs
c.1613delT
1 paper
NM_017612.5
p.P494L
c.1481C>T
2 papers
NM_017612.5
p.P548S
c.1642C>T
1 paper
NM_017612.5
p.F484delFs
c.1452delG
1 paper
NM_017612.5
p.G551R
c.1651G>C
2 papers
NM_017612.5
p.G551D
c.1652G>A
1 paper
NM_017612.5
p.R477insFs
c.1430_1431insT
1 paper
NM_017612.5
p.S557L
c.1670C>T
1 paper
NM_017612.5
p.P558T
c.1672C>A
1 paper
NM_017612.5
p.P474S
c.1420C>T
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